Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data.

OBJECTIVE: To explore risk factors for birth defects (including a broad range of specific defects). METHODS: Data were derived from the Population-based Birth Defects Surveillance System in Hunan Province, China, 2014-2020. The surveillance population included all live births, stillbirths, infant deaths, and legal termination of pregnancy between 28 weeks gestation and 42 days postpartum. The prevalence of birth defects (number of birth defects per 1000 infants) and its 95% confidence interval (CI) were calculated. Multivariate logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify risk factors for birth defects. We used the presence or absence of birth defects (or specific defects) as the dependent variable, and eight variables (sex, residence, number of births, paternal age, maternal age, number of pregnancies, parity, and maternal household registration) were entered as independent variables in multivariate logistic regression analysis. RESULTS: Our study included 143,118 infants, and 2984 birth defects were identified, with a prevalence of 20.85% (95%CI: 20.10-21.60). Multivariate logistic regression analyses showed that seven variables (except for parity) were associated with birth defects (or specific defects). There were five factors associated with the overall birth defects. The risk factors included males (OR = 1.49, 95%CI: 1.39-1.61), multiple births (OR = 1.44, 95%CI: 1.18-1.76), paternal age < 20 (OR = 2.20, 95%CI: 1.19-4.09) or 20-24 (OR = 1.66, 95%CI: 1.42-1.94), maternal age 30-34 (OR = 1.16, 95%CI: 1.04-1.29) or > = 35 (OR = 1.56, 95%CI: 1.33-1.81), and maternal non-local household registration (OR = 2.96, 95%CI: 2.39-3.67). Some factors were associated with the specific defects. Males were risk factors for congenital metabolic disorders (OR = 3.86, 95%CI: 3.15-4.72), congenital limb defects (OR = 1.34, 95%CI: 1.14-1.58), and congenital kidney and urinary defects (OR = 2.35, 95%CI: 1.65-3.34). Rural areas were risk factors for congenital metabolic disorders (OR = 1.21, 95%CI: 1.01-1.44). Multiple births were risk factors for congenital heart defects (OR = 2.09, 95%CI: 1.55-2.82), congenital kidney and urinary defects (OR = 2.14, 95%CI: 1.05-4.37), and cleft lip and/or palate (OR = 2.85, 95%CI: 1.32-6.15). Paternal age < 20 was the risk factor for congenital limb defects (OR = 3.27, 95%CI: 1.10-9.71), 20-24 was the risk factor for congenital heart defects (OR = 1.64, 95%CI: 1.24-2.17), congenital metabolic disorders (OR = 1.56, 95%CI: 1.11-2.21), congenital limb defects (OR = 1.61, 95%CI: 1.14-2.29), and congenital ear defects (OR = 2.13, 95%CI: 1.17-3.89). Maternal age < 20 was the risk factor for cleft lip and/or palate (OR = 3.14, 95%CI: 1.24-7.95), 30-34 was the risk factor for congenital limb defects (OR = 1.37, 95%CI: 1.09-1.73), >=35 was the risk factor for congenital heart defects (OR = 1.51, 95%CI: 1.14-1.99), congenital limb defects (OR = 1.98, 95%CI: 1.41-2.78), and congenital ear defects (OR = 1.82, 95%CI: 1.06-3.10). Number of pregnancies = 2 was the risk factor for congenital nervous system defects (OR = 2.27, 95%CI: 1.19-4.32), >=4 was the risk factor for chromosomal abnormalities (OR = 2.03, 95%CI: 1.06-3.88) and congenital nervous system defects (OR = 3.03, 95%CI: 1.23-7.47). Maternal non-local household registration was the risk factor for congenital heart defects (OR = 3.57, 95%CI: 2.54-5.03), congenital metabolic disorders (OR = 1.89, 95%CI: 1.06-3.37), congenital limb defects (OR = 2.94, 95%CI: 1.86-4.66), and congenital ear defects (OR = 3.26, 95%CI: 1.60-6.65). CONCLUSION: In summary, several risk factors were associated with birth defects (including a broad range of specific defects). One risk factor may be associated with several defects, and one defect may be associated with several risk factors. Future studies should examine the mechanisms. Our findings have significant public health implications as some factors are modifiable or avoidable, such as promoting childbirths at the appropriate age, improving the medical and socio-economic conditions of non-local household registration residents, and devoting more resources to some specific defects in high-risk groups, which may help reducing birth defects in China.

Vaginoplasty with Amnion Graft: Management of Mayer-Rokitansky-Kuster-Hauser Syndrome.

Mayer-Rokitansky-Kuster-Hauser syndrome also known as mullerian agenesis is a rare congenital condition in which there is absence of uterus along with upper vagina. Patient usually presents with primary amenorrhea with or without cyclical lower abdominal pain but have normal secondary sexual characters. Modified McIndoe Vaginoplasty with amnion graft is the commonest surgery performed worldwide. A 23 year old girl with normal secondary sexual characters presented with primary amenorrhea with cyclical lower abdominal pain; on examination blind vagina was present. Vaginoplasty with amnion graft was done and vaginal mould was placed. Vaginal dilatation with Hegar's dilator was done weekly until 6 weeks. She is under regular follow-up at present and advised for regular manual dilation at home. McIndoe Vaginoplasty with amnion graft is a simple yet rewarding procedure especially in low resource countries like ours, with good success rate and with minimal postoperative complications. Keywords: Amnion graft; Mayer-Rokitansky-Kuster-Hauser Syndrome; Modified McIndoe Vaginoplasty; Primary amenorrhea; Secondary sexual characters.

Anxiety, depression, somatization and psychological distress before and 2-6 years after a late termination of pregnancy due to fetal anomalies.

BACKGROUND: For many women, a late termination of pregnancy (TOP) can be an enormous psychological burden. Few studies have investigated the long-term psychological impact of late TOP. METHODS: N = 90 women answered a questionnaire containing questions about anxiety, depression and somatization (Brief-Symptom Inventory, BSI-18) shortly before (T1) and 2-6 years after (T4) their late termination of pregnancy. RESULTS: Prior to the late TOP, 57.8% of participants showed above-average levels of overall psychological distress (66.7% anxiety, 51.1% depression, 37.8% somatization). This number decreased significantly over time for all scales of the BSI-18. 2-6 years later, only 10.0% of women still reported above-average levels (17.8% anxiety, 11.1% depression, 10.0% somatization). CONCLUSIONS: Our results support those of previous research showing that late TOP has a substantial psychological impact on those experiencing it in the short-term. In the long-term, most women return to normal levels of psychological distress, although some still show elevated levels. Limitations of the study include monocentric data collection, drop-out between T1 and T4, and the relatively wide range of two to six years after TOP. Further research should be conducted in order to identify factors that impact the psychological processing of the experience.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts.

BACKGROUND: This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management. CASE PRESENTATION: The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation. DISCUSSION AND CONCLUSIONS: Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.

A rare variant of mullerian agenesis: a case report and review of the literature.

INTRODUCTION: Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here. CASE REPORT: We present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri-a horseshoe band cervix-were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation. CONCLUSION: Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management.

The latissimus dorsi creates a dynamic track for the inferior angle of the scapula during arm abduction in humans.

BACKGROUND: The importance of several scapulothoracic muscles, including trapezius and serratus anterior, in maintaining physiological scapula kinematics has been highlighted in the past. However, the relationship between the scapula and the latissimus dorsi muscle remains unclear. Our clinical surgical observation is that the latissimus dorsi does not directly attach but rather runs superficial to the inferior angle of the scapula. Based on this observation, we hypothesise that the latissimus dorsi creates a dynamic track on which the scapula glides under the muscle belly during elevation of the arm, creating the latissimus-scapula overlap (LSO). METHODS: All consecutive patients who had a whole-body computed tomography scan (CT) in case of polytrauma evaluation between 2018 and 2021, with complete depiction of the scapula and latissimus dorsi muscle, were analysed. 150 shoulders in 90 patients with arms up were matched according to their age (within five years), gender, and affected side with 150 shoulders in 88 patients with arms down. Patients with pathologies of the upper extremities or thorax that potentially could alter LSO measurements were excluded. LSO was calculated as a ratio of the measured area of the latissimus dorsi projection on the scapula and the total scapula area. RESULTS: The mean age of the 178 patients (48 females; 13 males) was 60 years. The arms-up group showed a significantly higher LSO than the arms-down group (19.9 ± 6.3% vs. 2.7 ± 2.2%; p < 0.0001). In the arms-up group, approximately one fifth of the scapula was overlapped inferiorly by the muscle belly of the latissimus dorsi, contrary to the almost non-existing LSO in the arms-down group. CONCLUSION: With arms up, humans show a significantly higher LSO in comparison to arms down indicating that the latissimus dorsi indeed creates a dynamic track on which the scapula is forced to travel during abduction of the arm. This finding of increased LSO during the elevation of the arm warrants further consideration of the role of the latissimus dorsi in scapula kinematics and potentially scapular dyskinesis. LEVEL OF EVIDENCE: Level two diagnostic study.

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China.

OBJECTIVE: To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016-2020. METHODS: Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with polydactyly and syndactyly. RESULTS: Our study included 847,755 births, and 14,459 birth defects were identified, including 1,888 polydactyly and 626 syndactyly cases, accounting for 13.06% and 4.33% of birth defects, respectively. The prevalences of total birth defects, polydactyly, and syndactyly were 17.06‰ (95%CI: 16.78-17.33), 2.23‰ (95%CI: 2.13-2.33), and 0.74‰ (95%CI: 0.68-0.80), respectively. Most polydactyly (96.77%) and syndactyly (95.69%) were diagnosed postnatally (within 7 days). From 2016 to 2020, the prevalences of polydactyly were 1.94‰, 2.07‰, 2.20‰, 2.54‰, and 2.48‰, respectively, showing an upward trend (χ2trend = 19.48, P < 0.01); The prevalences of syndactyly were 0.62‰, 0.66‰, 0.77‰, 0.81‰, and 0.89‰, respectively, showing an upward trend (χ2trend = 10.81, P = 0.03). Hand polydactyly (2.26‰ vs. 1.33‰, OR = 1.69, 95%CI: 1.52-1.87) and hand syndactyly (0.43‰ vs. 0.28‰, OR = 1.42, 95%CI: 1.14-1.76) were more common in males than females. Polydactyly (2.67‰ vs. 1.93‰, OR = 1.38, 95%CI: 1.26-1.51) and syndactyly (0.91‰ vs. 0.62‰, OR = 1.47, 95%CI: 1.26-1.72) were more common in urban areas than in rural areas. Compared to maternal age 25-29, hand polydactyly was more common in maternal age < 20 (2.48‰ vs. 1.74‰, OR = 1.43, 95%CI: 1.01-2.02) or ≥ 35 (2.25‰ vs. 1.74‰, OR = 1.30, 95%CI: 1.12-1.50). CONCLUSION: In summary, we have described the prevalence and epidemiology of polydactyly and syndactyly from hospital-based surveillance in Hunan Province, China, 2016-2020. Our findings make some original contributions to the field, which may be valuable for future research.

Effective management of recurrent Doege-Potter syndrome with somatostatin-analogues: A case report.

BACKGROUND: Doege-Potter syndrome is defined as paraneoplastic hypoinsulinemic hypoglycemia associated with a benign or malignant solitary fibrous tumor frequently located in pleural, but also extrapleural sites. Hypoglycemia can be attributed to paraneoplastic secretion of "Big-IGF-II," a precursor of Insulin-like growth factor-II. This prohormone aberrantly binds to and activates insulin receptors, with consecutive initiation of common insulin actions such as inhibition of gluconeogenesis, activation of glycolysis and stimulation of cellular glucose uptake culminating in recurrent tumor-induced hypoglycemic episodes. Complete tumor resection or debulking surgery is considered the most promising treatment for DPS. CASE: Here, we report a rare case of a recurrent Doege-Poter Syndrome with atypical gelatinous tumor lesions of the lung, pleura and pericardial fat tissue in an 87-year-old woman. Although previously described as ineffective, we propose that adjuvant treatment with Octreotide in conjunction with intravenous glucose helped to maintain tolerable blood glucose levels before tumor resection. The somatostatin-analogue Lanreotide was successfully used after tumor debulking surgery (R2-resection) to maintain adequate blood glucose control. CONCLUSION: We conclude that somatostatin-analogues bear the potential of being effective in conjunction with limited surgical approaches for the treatment of hypoglycemia in recurrent or non-totally resectable SFT entities underlying DPS.

Higher risk of cerebral palsy, seizures/epilepsy, visual- and hearing impairments, cancer, injury and child abuse in children with congenital anomalies: Data from the EUROlinkCAT study.

AIM: The aim is to examine the risk of cerebral palsy, seizures/epilepsy, visual- and hearing impairments, cancer, injury/poisoning and child abuse in children with and without a congenital anomaly up to age 5 and 10 years. METHODS: This is a population-based data linkage cohort study linking information from the European Surveillance of Congenital Anomalies network (EUROCAT) and birth registries to hospital discharge databases. We included 91 504 live born children with major congenital anomalies born from 1995 to 2014 from nine EUROCAT registries in five countries and 1 960 727 live born children without congenital anomalies (reference children). Prevalence and relative risk (RR) were estimated for each of the co-morbidities using Kaplan-Meier survival estimates. RESULTS: Children with congenital anomalies had higher risks of the co-morbidities than reference children. The prevalences in the reference children were generally very low. The RR was 13.8 (95% CI 12.5-15.1) for cerebral palsy, 2.5 (95% CI 2.4-2.6) for seizures/epilepsy, 40.8 (95% CI 33.2-50.2) for visual impairments, 10.0 (95% CI 9.2-10.9) for hearing loss, 3.6 (95% CI 3.2-4.2) for cancer, 1.5 (95% CI 1.4-1.5) for injuries/poisoning and 2.4 (95% CI 1.7-3.4) for child abuse. CONCLUSION: Children with congenital anomalies were more likely to be diagnosed with the specified co-morbidities compared to reference children.

A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.

BACKGROUND Caudal regression syndrome (CRS) is a rare anomaly characterized by maldevelopment of the caudal half of the body and can involve the genitourinary system. This report presents the case of a 13-year-old girl diagnosed with CRS and previously unknown distal vaginal atresia, presenting with monthly pelvic pain. CASE REPORT A 13-year-old pre-menarcheal patient with CRS sought emergency care due to debilitating monthly pelvic pain persisting for 3 months. Pelvic examination revealed the absence of a vaginal opening, and a rectal exam showed a 5-cm large bulge anteriorly, along with a 2-cm fibrous septum in the distal portion of the vagina. Pelvic ultrasound and magnetic resonance imaging confirmed the presence of hematometrocolpus and hematosalpinx on the right adnexa, while the left ovary was not identified. Treatment commenced with fixed analgesia and combined continuous oral contraception. Due to the persistent pain and uncertainty regarding the anatomy of the internal reproductive organs, diagnostic laparoscopy with drainage of the hematocolpus was performed 2 weeks later. Six months later, after multidisciplinary discussion, definitive surgery (pull-through vaginoplasty) was carried out, allowing for emotional preparation for postoperative dilation. One year after the definitive surgery, the patient remains asymptomatic, experiencing regular withdrawal bleeding with no signs of obstruction. CONCLUSIONS Patients with musculoskeletal anomalies should undergo urogenital tract evaluation. Timely identification of distal vaginal atresia is pivotal for devising appropriate treatment and averting complications. During the acute phase, laparoscopic drainage can alleviate symptoms and clarify anatomy, without compromising the success of subsequent definitive surgery.

Renal Hypodysplasia/Aplasia 3 Caused by a Rare Variant of GREB1L With Incomplete Penetrance in a Chinese Family.

Renal agenesis represents the most severe form of congenital anomalies of the kidney and urinary tract. Bilateral renal agenesis is almost invariably fatal at birth and has high genetic heterogeneity. Here we report on a Chinese family with two pregnancies affected by a prenatal form of bilateral renal agenesis. Trio-WES was conducted to explore the underlying genetic cause and identified a novel nonsense variant (c .2621G>A: p. Trp874Ter) in the GREB1L gene. Based on previous research, pathogenic mutations in GREB1L can cause renal hypodysplasia/aplasia-3 (RHDA3) with autosomal dominant inheritance. Sanger sequencing performed on the family members revealed that the variant was vertically transmitted from the maternal grandfather through the unaffected mother to the two affected fetuses, fully demonstrating the incomplete dominance of the disease. Our study extends the mutational spectrum associated with RHDA3 and contributes to a more general understanding for the complex genetic inheritance of GREB1L.

Fraser syndrome with limb reduction defect: a rare and unique anatomic variation.

INTRODUCTION: Fraser syndrome, named after George Fraser, is an autosomal recessive disorder showing a highly variable interfamilial phenotypic variation, with malformations ranging from minor symptoms to lethal anomalies like renal agenesis, incompatible with survival. Limb reduction defects have not been reported to be associated with it. CASE PRESENTATION: A 21-year-old primigravida presented to the antenatal outpatient department with a level two targeted anomaly scan report suggestive of severe oligohydramnios with suspected renal agenesis. The cranial vault bones were compressed, and orbital globes and lenses could not be visualized. Renal agenesis was confirmed due to sleeping adrenals sign, non-visualization of the urinary bladder, and Doppler of renal arteries. A detailed examination of the fetal head in the sagittal section showed the absence of an eye globe and lens, arousing suspicion of Fraser syndrome. After pregnancy termination, a complete fetal autopsy was done to look for any additional findings. CONCLUSION: Patients who have a syndromic mix of acrofacial and urogenital abnormalities with or without cryptophthalmos should be evaluated for Fraser syndrome, which can be diagnosed by clinical examination and perinatal autopsy.

Hospital care in the first 10 years of life of children with congenital anomalies in six European countries: data from the EUROlinkCAT cohort linkage study.

OBJECTIVE: To quantify the hospital care for children born with a major congenital anomaly up to 10 years of age compared with children without a congenital anomaly. DESIGN, SETTING AND PATIENTS: 79 591 children with congenital anomalies and 2 021 772 children without congenital anomalies born 1995-2014 in six European countries in seven regions covered by congenital anomaly registries were linked to inpatient electronic health records up to their 10th birthday. MAIN OUTCOME MEASURES: Number of days in hospital and number of surgeries. RESULTS: During the first year of life among the seven regions, a median of 2.4% (IQR: 2.3, 3.2) of children with a congenital anomaly accounted for 18% (14, 24) of days in hospital and 63% (62, 76) of surgeries. Over the first 10 years of life, the percentages were 17% (15, 20) of days in hospital and 20% (19, 22) of surgeries. Children with congenital anomalies spent 8.8 (7.5, 9.9) times longer in hospital during their first year of life than children without anomalies (18 days compared with 2 days) and 5 (4.1-6.1) times longer aged, 5-9 (0.5 vs 0.1 days). In the first year of life, children with gastrointestinal anomalies spent 40 times longer and those with severe heart anomalies 20 times longer in hospital reducing to over 5 times longer when aged 5-9. CONCLUSIONS: Children with a congenital anomaly consume a significant proportion of hospital care resources. Priority should be given to public health primary prevention measures to reduce the risk of congenital anomalies.

Duplicación del colédoco asociado a unión biliopancreática anómala: Reporte de caso / Common bile duct duplication associated with anomalous biliopancreatic junction: A case report

Introducción. La duplicación del colédoco es una anomalía congénita poco frecuente. En la mayoría de los casos este defecto se asocia a cálculos en la vía biliar, unión pancreatobiliar anómala, pancreatitis, cáncer gástrico o colangiocarcinoma. Por esta razón, el diagnóstico y el tratamiento temprano son importantes para evitar las complicaciones descritas a futuro. Métodos. Se presenta el caso de una paciente de 30 años, con antecedente de pancreatitis aguda, con cuadro de dolor abdominal crónico, a quien se le realizaron varios estudios imagenológicos sin claro diagnóstico. Fue llevada a manejo quirúrgico en donde se documentó duplicación del colédoco tipo II con unión pancreatobiliar anómala. Resultados. Se hizo reconstrucción de las vías biliares y hepatico-yeyunostomía, con adecuada evolución postoperatoria y reporte final de patología sin evidencia de tumor. Conclusión. El diagnóstico se hace mediante ecografía endoscópica biliopancreática, colangiorresonancia o colangiopancreatografía retrógrada endoscópica. El tratamiento depende de si está asociado o no a la presencia de unión biliopancreática anómala o cáncer. Si el paciente no presenta patología neoplásica, el tratamiento quirúrgico recomendado es la resección del conducto con reconstrucción de las vías biliares.

Introduction. Double common bile duct is an extremely rare congenital anomaly. This anomaly may be associated with bile duct stones, anomalous biliopancreatic junction, pancreatitis, bile duct cancer, or gastric cancers. Thus, early diagnosis and treatment is important to avoid complications. Clinical case. We report a rare case of double common bile duct associated with an anomalous biliopancreatic junction in a 30-year-old female, with prior history of acute pancreatitis, who presented with chronic abdominal pain. She underwent several imaging studies, without clear diagnosis. She was taken to surgical management where duplication of the type II common bile duct was documented with anomalous pancreatobiliary junction. Results. Reconstruction of the bile ducts and hepatico-jejunostomy were performed, with adequate postoperative evolution and final pathology report without evidence of tumor. Conclusion. Diagnosis is usually performed by an endoscopic ultrasound, magnetic resonance cholangiopancrea-tography, or endoscopic retrograde cholangiopancreatography. Treatment depends on the presence of anomalus biliopancreatic junction or concomitant cancer. In cases without associated malignancy, resection of bile duct and biliary reconstruction is the recommended surgical treatment.

Laryngotracheoesophageal Cleft Type IV in a Preterm Neonate. A Case Report and Literature Review.

We present a case of a preterm neonate with a type IV laryngo-tracheo-oesophageal cleft, an uncommon congenital malformation, resulting from the failure of separation of the trachea and the oesophagus during fetal development, often associated with other deformities as well. Data in the literature shows that the long-term morbidity from the entity has declined over the last decades, even though prognosis remains unfavourable for types III and IV. This report emphasizes the complex issues neonatologists are faced with, when treating neonates with this rare disorder in the first days of life, what will raise suspicion of this rare medical entity, and that direct laryngoscopy/bronchoscopy finally depicts the exact extension of the medical condition. At the same time extensive evaluation for coexisting congenital anomalies should be performed. For all the above reasons, these neonates should be treated in specialized tertiary pediatric centers for multidisciplinary prompt management, which may improve, the outcome.

[Current status and reflection on molecular diagnosis of birth defects].

Birth defects are a major problem threatening the health of children in China. Genetic factors play a major role in birth defect etiology. Molecular diagnosis is the key means for screening, diagnosing, and preventing birth defects caused by genetic factors. How to carry out large-scale and cost-effective molecular diagnosis in clinical practice is a major challenge in the prevention and treatment of birth defects in China. This article reviews the current status of birth defects in China, the application of molecular diagnostic technology in birth defect prevention and control, and the challenges in promoting its use, to provide references for clinical practice in birth defect molecular diagnosis.

[Analysis of risk factors for congenital auriclar deformity and its different types].

Objective:To Explore the clinical characteristics,risk factors,and differences in risk factors for different types of congenital auricular deformities,in order to provide theoretical basis for precise prevention and control of congenital auriclar deformity. Methods:Full-term newborns born in the Second Affiliated Hospital of Zhengzhou University from May 2022 to January 2023 were screened for auricle malformation, general information and data were collected,,and high-risk factors were investigated withself-made questionnaire.Using a case-control study method,newborns with auriclar deformities were selected as the case group and those without auriclar deformities during the same period were selected as the control group.A case-control study was conducted to analyze the incidence rate,high-risk factors,and differences in high-risk factors for different types of auricle deformities. Results:A total of 1 758 newborns （3 516 ears） were included in this study,including 562 newborns（927 ears） with auriclar deformities,the incidence of congenital malformations of the auricle is 26.37%.Among them,289 ears （8.22%） were helical rim deformity,244 ears （6.94%） were lidding/lop ear,166 ears （4.72%） were mixed deformities,131 ears （3.73%） were prominent/cup ear,79 ears （2.25%） were Stahl's ears,16 ears （0.46%） were abnormal conchal crus,and 2 ears （0.06%） were cryptotia.Maternal history of infection in early pregnancy（OR=1.513，95%CI 1.119-2.045）,previous miscarriage history（OR=1.300，95%CI 1.049-1.613）,and abnormal pregnancy（OR=1.278，95%CI 1.032-1.582） are risk factors for congenital auricular malformations.There was no statistically significant difference in the history of infection（χ²=1.877，P=0.391）,previous miscarriage（χ²=4.706，P=0.095）,and abnormal pregnancy（χ²=5.026，P=0.081） among mothers with helical rim deformity,lidding/lop ear,and mixed deformities. Conclusion:The incidence rate of congenital auricle deformity is high, with common malformations such as helical rim deformity, lidding/lop ear,and mixed deformities. Congenital auricular deformity is caused by various factors, the same risk factor has roughly the same impact on different types of morphological abnormalities.

Consideraciones anestésicas en el manejo perioperatorio del paciente con síndrome de Jarcho-Levin / Anesthetic considerations in the perioperative management of the patient with Jarcho-Levin syndrome

El síndrome de Jarcho-Levin es un epónimo usado para describir un espectro de displasias esqueléticas de tórax pequeño con el compromiso variable de vertebras y costillas. Inicialmente considerado letal, actualmente es compatible con la vida en sus presentaciones más leves. Las alteraciones óseas que conllevan un patrón respiratorio restrictivo, las infecciones respiratorias de repetición y el fenotipo particular pueden dificultar el manejo anestésico perioperatorio. Es de especial interés la adecuada valoración de la vía aérea por presentar predictores de vía aérea difícil, así como la prevención, el diagnóstico precoz y el tratamiento adecuado de la insuficiencia respiratoria. Presentamos el caso de un paciente con síndrome de Jarcho-Levin intervenido de distracción vertebral, con sus implicaciones más destacables en el manejo anestésico.(AU)

Jarcho-Levin syndrome is an eponym used to describe a spectrum of small thoracic skeletal dysplasias with variable involvement of vertebrae and ribs. Initially considered lethal, it is currently compatible with life in its mildest forms. Bone alterations that lead to a restrictive respiratory pattern, recurrent respiratory infections and particular phenotype can make perioperative anesthetic management difficult. The proper assessment of the airway is of special interest because it presents predictors of a difficult airway, as well as the prevention, early diagnosis and adequate treatment of respiratory failure. We present the case of a patient with Jarcho-Levin syndrome who underwent vertebral distraction surgery, with its most notable implications in anesthetic management.(AU)